Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant

Jennifer L. Oliveira, Kenneth Swanson, Patricia Wendt, Thomas D. Caughey, James D. Hoyer

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O2) affinity and is associated with mild polycythemia.

Original languageEnglish (US)
Pages (from-to)565-571
Number of pages7
JournalHemoglobin
Volume34
Issue number6
DOIs
StatePublished - Dec 1 2010

Keywords

  • Cambridge
  • Congenital
  • Erythrocytosis
  • Hemoglobin (Hb) variant
  • Hemoglobinopathy
  • High oxygen (O ) affinity
  • Left-shifted dissociation curve
  • Polycythemia
  • p50

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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